爱尔兰早发性帕金森病中 PARKIN、PINK1 和 DJ1 的分析。
PARKIN, PINK1, and DJ1 analysis in early-onset Parkinson's disease in Ireland.
机构信息
The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
出版信息
Ir J Med Sci. 2022 Apr;191(2):901-907. doi: 10.1007/s11845-021-02563-w. Epub 2021 Mar 22.
BACKGROUND
Variants in PARKIN, PINK1, and DJ1 are associated with early-onset Parkinson' disease (EOPD, age-at-onset < 45). We previously reported a single PINK1 and a single DJ1 heterozygous variant carrier.
PURPOSE
We aimed to expand upon our previous EOPD studies and investigate for any genotype-phenotype correlations in Irish PD.
METHODS
Three hundred fourteen PD patients were recruited from Dublin Neurological Institute, Ireland. Genetic analysis was performed at the Mayo Clinic, Jacksonville, USA. We screened 81 patients with young-onset PD (age-at-onset < 50), of which 58 had EOPD.
RESULTS
We identified 4 patients with homozygous/compound heterozygous variants and 3 heterozygote carriers (pathogenic PINK1/DJ1 variants were not found). Expansion of one of the pedigrees showed a novel variant in exon 9, in a symptomatic patient. We identified 6.89% PARKIN variant carriers associated with EOPD.
CONCLUSION
These findings suggest that PINK1 and DJ1 are rarely associated with Irish YOPD, while PARKIN variant frequency is similar to that reported worldwide.
背景
PARKIN、PINK1 和 DJ1 的变异与早发性帕金森病（EOPD，发病年龄 < 45 岁）有关。我们之前报道了一名 PINK1 杂合变体和一名 DJ1 杂合变体携带者。
目的
我们旨在扩展之前的 EOPD 研究，并调查爱尔兰 PD 中的任何基因型-表型相关性。
方法
我们从爱尔兰都柏林神经研究所招募了 314 名 PD 患者。遗传分析在美国杰克逊维尔的梅奥诊所进行。我们对 81 名发病年龄较轻的 PD 患者（发病年龄 < 50 岁）进行了筛查，其中 58 名为 EOPD。
结果
我们在 4 名患者中发现了纯合/复合杂合变体和 3 名杂合变体携带者（未发现致病性 PINK1/DJ1 变体）。一个家系的扩展显示了一个新的变异体在 exon 9 中，在一个有症状的患者中。我们发现 6.89% 的 PARKIN 变体携带者与 EOPD 相关。
结论
这些发现表明 PINK1 和 DJ1 很少与爱尔兰 YOPD 相关，而 PARKIN 变体的频率与全球报道的相似。
Zotero 插件